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Phenotypic subregions within the split-hand/foot malformation 1 locus.

Malene B Rasmussen1, Sven Kreiborg2, Per Jensen3

  • 1Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

Human Genetics
|February 4, 2016
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Summary

Split-hand/foot malformation 1 (SHFM1) is linked to chromosomal issues affecting DLX5/DLX6 gene expression. This study identifies distinct genetic regions within SHFM1 correlating with specific symptoms, including hearing loss and craniofacial anomalies.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Genetics

Background:

  • Split-hand/foot malformation 1 (SHFM1) is a congenital disorder affecting limb development, often caused by chromosomal abnormalities impacting the 7q21.3 region.
  • The genetic basis of SHFM1 involves dysregulation of DLX5 and DLX6 gene expression due to long-range position effects, leading to variable clinical presentations.
  • SHFM1 exhibits incomplete penetrance and diverse phenotypes, potentially influenced by factors like sex and genomic imprinting.

Purpose of the Study:

  • To investigate the genotype-phenotype correlations in a large cohort of SHFM1 patients with molecularly characterized chromosomal aberrations.
  • To delineate specific phenotypic subregions within the SHFM1 locus associated with distinct clinical manifestations.
  • To analyze transmission patterns and sex-specific penetrance in SHFM1.

Main Methods:

  • Next-generation mate-pair sequencing to identify chromosomal breakpoints, specifically an inversion inv(7)(q21.3q35) in a new family.
  • Genotype-phenotype correlation analysis across 100 patients from 32 SHFM1 families with characterized chromosomal aberrations.
  • Systematic analysis of transmission patterns and penetrance in relation to specific SHFM1 genetic subregions.

Main Results:

  • Identification of a novel inv(7)(q21.3q35) breakpoint truncating the SHFM1 locus regulatory region for DLX5/6 expression in a family with syndromic SHFM1.
  • Establishment of three distinct phenotypic subregions within the SHFM1 locus: isolated SHFM, SHFM with hearing loss, and SHFM with hearing loss and craniofacial anomalies.
  • Confirmation of skewed transmission and higher penetrance in males compared to females for isolated SHFM.

Conclusions:

  • The study refines the understanding of the SHFM1 locus, linking specific genetic regions to distinct phenotypic outcomes, including syndromic features.
  • The findings highlight the critical role of regulatory elements within the SHFM1 locus in controlling DLX5/6 expression and subsequent development.
  • The research provides evidence for sex-specific differences in SHFM1 penetrance, particularly in isolated cases, contributing to the complexity of its inheritance pattern.